2024年12月25日 · KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include Hyperinsulinemic Hypoglycemia, Familial, 2 and Maturity-Onset Diabetes Of The Young, Type 13. Among its related pathways are Inwardly rectifying K+ channels and Cardiac conduction.

KCNJ11 gene mutations that cause permanent neonatal diabetes mellitus change single amino acids in the protein sequence. These mutations result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood glucose control.

2022年12月1日 · Due to the central role in insulin secretion, the potassium inwardly-rectifying channel subfamily J member 11 (KCNJ11) gene is one of the essential genes for type 2 diabetes (T2D) predisposition....

KCNJ11 mutations are rare in patients diagnosed with type 1 diabetes, the identification of a KCNJ11 mutation may have important treatment implications. mutations in KCNJ11 are the first genetic cause for remitting as well as permanent diabetes

KCNJ11基因编码ATP敏感性钾通道（K ATP）的Kir6.2亚基，是调节胰岛β细胞胰岛素分泌的重要基因。 KCNJ11基因不同突变位点可导致一系列连续的、不同轻重的糖代谢异常，包括新生儿糖尿病、青少年发病的成人糖尿病13、2‌型糖尿病、婴儿持续性高胰岛素血症性低血糖症。 磺脲类降糖药物可与K ATP 通道中的磺酰脲类受体1（SUR1）结合，导致通道关闭，继而促进胰岛素分泌；因此，KCNJ11基因突变所致的新生儿糖尿病、青少年发病的成人糖尿病13、2‌型糖尿病患者可 …

该基因编码的蛋白是一种完整的膜蛋白和内向整流型钾通道。 编码的蛋白质更倾向于让钾流入细胞而不是流出细胞，它受 G 蛋白控制，并被发现与磺酰脲受体 SUR 相关。 该基因的突变是导致婴儿期家族性持续性高胰岛素性低血糖症 (PHHI) 的原因，PHHI 是一种以胰岛素分泌失调为特征的常染色体隐性遗传病。 该基因的缺陷也可能导致常染色体显性非胰岛素依赖型糖尿病 II 型 (NIDDM) 、暂时性新生儿糖尿病 3 型 (TNDM3) 和永久性新生儿糖尿病 (PNDM) 。 已针对该基因描述了 …

Numerous studies have reported the involvement of single nucleotide polymorphisms of the KCNJ11 gene and their interactions in the susceptibility to DM. This review discusses the current evidence for the contribution of common KCNJ11 genetic variants to the development of DM.

对2个伴有整流性钾离子通道j家族11因子（kcnj11）突变的mody13家系进行遗传病因分析。应用全外显子组测序分析发现,两个家系为kcnj11突变,但突变位点不同。本报告首次报道有关kcnj11突变的致病性。

2025年1月11日 · Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes. Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K (ATP) gain of channel activity and loss of channel expression.

2020年12月13日 · Title: Potassium inwardly-rectifying channel subfamily J member 11 (KCNJ11) gene polymorphism in Egyptian type 2 diabetic patients: a single-center study. Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.